Fibroblast growth factor receptor mutations and craniosynostosis: three receptors, five syndromes.

ABSTRACT

The post eighteen months have been exciting time for craniosynostosis research. In a rapid flurry of publications, mutations of fibroblast growth factor receptors (FGFRs) have been identified in three of the best known craniosynostosis syndromes, namely Apert, Crouzon and Pfeiffer syndromes, as well as in Jackson-Weiss syndrome and thanatophoric dysplasia. These findings open many new avenues for craniosynostosis research including studies of diagnosis, pathogenesis, and mutagenesis. Here the major findings and their implications have been briefly reviewed.